What is the BRCA Gene Mutation?

You have likely heard the term “BRCA” either from the news, a doctor or even the occasional celebrity. Angelina Jolie and Christina Applegate are among the most prominent celebrities to announce their mutation status. However, hearing about the genetic mutation in passing and understanding the significance it plays in someone’s life are two very different things. There is a lot to know about the BRCA gene mutation and the impact it can play on an individual’s life.

Here are five things you need to know to better understand the BRCA gene mutation:

Everyone has BRCA genes.
Everyone has BRCA1 and BRCA2 genes, which act as tumor suppressors. This means that when the genes work properly, they prevent cancer from developing. However, if an individual has a mutated BRCA1 or BRCA2 gene, it won’t suppress the growth of cancer cells like it is supposed to, which results in a higher likelihood of developing cancer.¹
Your family history is the biggest indicator of your risk for hereditary cancer.
Most cancers, including breast and ovarian cancers, are sporadic. Sporadic cancer is any cancer that is not caused by an inherited gene mutation. Instead, the cancer develops from environmental or random changes to genes. In fact, only 5-15% of breast and ovarian cancers are caused by hereditary mutations, rather than sporadic factors.² However, it is extremely important to look at your family’s history of cancer to see if there are any patterns. These patterns may indicate a genetic mutation that can increase the lifetime risk of developing breast and ovarian cancers to 75% and 50%, respectively.³

When looking at your family history, there are many things to remember. The first is to look past your mother and grandmother on your family tree. Just because your mother didn’t develop cancer, does not mean there isn’t a mutation. Not all mutation carriers will develop cancer, and genetic mutations can be passed on from your father or grandfather.

Lastly, be aware of the age of diagnosis of each family member who did develop cancer. Hereditary cancer is more likely than sporadic cancer to develop before the age of 50.⁴
BRCA mutations aren’t limited to breast and ovarian cancers.
Both men and women can pass a mutated BRCA1 or BRCA2 gene on to their children. In fact, if you are positive for the mutation, your child has a 50% chance of inheriting it.

BRCA1/2 gene mutation carriers are not just at risk for breast and ovarian cancers. While breast and ovarian are the two most prominent cancers, there are several others associated with the mutation. With BRCA1, women have a risk of breast, ovarian and pancreatic cancers. Meanwhile, men have a risk of breast and pancreatic cancers. With a BRCA2 mutation, women have a risk of breast, ovarian, pancreatic cancers, and skin cancer. Men have a risk of developing breast, prostate, pancreatic cancers, and skin cancer.⁵
*Source: Basser Center for BRCA
Genetic counselors are your guide through genetic testing.
Genetic testing can be overwhelming, which is why it is best to work with a genetic counselor. Having a counselor to talk to about your concerns as well as testing and preventive options can make the experience much easier. The best way to get connected to a counselor is to talk with your primary care physician.

A genetic counselor will spend time with an individual reviewing their family history, explaining the impact of gene mutations and answering questions. The counselor will then make a recommendation on what type of testing to do and which commercial lab to use. The most accurate genetic test results come from a reputable, commercial lab. While home testing has grown in popularity, it is always best to go through a genetic counselor.

The process of genetic testing consists of providing a DNA sample from saliva or blood in a collection kit. The DNA is then evaluated in a lab for the presence of a mutation. This process can take several weeks.⁶

It is important to know that genetic testing is a rapidly evolving field. Having an established relationship with a genetic counselor is important in order to receive updates on advances in the field, such as the discovery of new mutations, as well as to have someone to follow up with for future testing.
Preventive tools and screening exist for BRCA1/2 gene mutation carriers.
If a genetics test result comes back positive for the BRCA1/2 gene mutation, know that several preventive tools and enhanced screenings exist. The most important step after receiving a positive test result is to establish care with a provider. While an individual can continue care with a primary care physician or OB/GYN, many health systems have specialists that will follow individuals before cancer develops. An individual can then begin a cancer-screening program with their provider. Enhanced breast screenings include breast exams, mammograms, ultrasounds and MRIs help to detect cancer in its earliest stages. It is recommended that men and women who carry the gene mutation start these screenings as young as 25. For ovarian cancer, it is recommended that women begin ultrasounds and the CA-125 blood test at the age of 30.⁷

Prophylactic surgery (surgery before cancer develops) is a preventive tool for individuals who are BRCA1/2 positive. These risk-reducing surgeries—for both the breasts and ovaries—are much more involved; however, they are the most effective options. Studies have shown the surgeries reduce the risk of cancer by 90%.⁸

Inheriting the BRCA gene mutation does not mean a person will develop cancer. It means an individual has the opportunity to prevent the growth of cancer that could otherwise be fatal. It creates opportunities for preventive care that have the potential to extend a person's life. AdventHealth is here to provide whole health care. Find the provider that is right for you with the MyHealthKC Find a Doctor tool.

Understanding the BRCA Gene Mutation

Everyone has BRCA genes.

Your family history is the biggest indicator of your risk for hereditary cancer.

BRCA mutations aren’t limited to breast and ovarian cancers.

Genetic counselors are your guide through genetic testing.

Preventive tools and screening exist for BRCA1/2 gene mutation carriers.